Associated Papers
Biallelic Variants in COQ4 Cause Childhood-Onset Pure Hereditary Spastic Paraplegia.
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Movement Disorders Clinical Practice, 2024
Whole exome sequencing of patients with varicella-zoster virus and herpes simplex virus induced acute retinal necrosis reveals rare disease-associated genetic variants.
Heinz JL et al.
Frontiers in Molecular Neuroscience, 2023
A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.
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26741492 (PubMed )
Supplement: pgen.1005679.s001.docx
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